Search Results - "Rubinstein, Jack H."

Rubinstein-Taybi syndrome medical guidelines by Wiley, Susan, Swayne, Susan, Rubinstein, Jack H., Lanphear, Nancy E., Stevens, Cathy A.

“…Children and adults with Rubinstein‐Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the…”
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Rubinstein-Taybi syndrome in children with tethered spinal cord by TANAKA, Tomoko, LING, Benjamin C, RUBINSTEIN, Jack H, CRONE, Kerry R

“…The authors identified eight patients with Rubinstein-Taybi syndrome (RTS) and examined how the underlying conditions of this syndrome can impede the detection…”
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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations by Petrij, Fred, Dauwerse, Hans G, Blough, Ruthann I, Giles, Rachel H, van der Smagt, Jasper J, Wallerstein, Robert, Maaswinkel-Mooy, Petra D, van Karnebeek, Clara D, van Ommen, Gert-Jan B, van Haeringen, Arie, Rubinstein, Jack H, Saal, Howard M, Hennekam, Raoul C M, Peters, Dorien J M, Breuning, Martijn H

“…Rubinstein-Taybi syndrome (RTS) is a malformation syndrome characterised by facial abnormalities, broad thumbs, broad big toes, and mental retardation. In a…”
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Instability of the Patellofemoral Joint in Rubinstein-Taybi Syndrome by Mehlman, Charles T, Rubinstein, Jack H, Roy, Dennis R

“…Twenty-five (3.4%) of 732 individuals with Rubinstein-Taybi syndrome were noted to have instability of the patellofemoral joint. We believe that this is in…”
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Tumors in Rubinstein-Taybi syndrome by Miller, R W, Rubinstein, J H

“…The 14 tumors reported in Rubinstein-Taybi syndrome since 1989, when added to the 22 previously reported, are beginning to show a pattern of neural and…”
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Keloids and neoplasms in the Rubinstein-Taybi syndrome by Siraganian, P A, Rubinstein, J H, Miller, R W

“…In a series of 574 individuals with the Rubinstein-Taybi syndrome, 28 had keloids, and 19 had one or more neoplasms. The array of malignant neoplasms does not…”
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Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome by RUBINSTEIN, J H, TAYBI, H

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Water intoxication secondary to feeding mismanagement. A preventable form of familial seizure disorder in infants by Partridge, J C, Payne, M L, Leisgang, J J, Randolph, J F, Rubinstein, J H

“…Water intoxication with seizures secondary to excessive fluid ingestion occurred in four apparently healthy infants in two families; we also review five…”
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Retinal detachment in a child as the first sign of leukemic relapse: histopathology, MRI findings, treatment, and tumor-free follow up by Primack, J D, Smith, M E, Tychsen, L

“…Improved leukemia therapies in children have brought about prolonged remissions with extramedullary relapses being reported in sites other than the most common…”
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Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome by Brei, T J, Burke, M J, Rubinstein, J H

“…Information is reviewed on the ophthalmologic findings in 614 individuals with Rubinstein-Taybi syndrome (RTS). The data were collected from the world…”
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Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome by Blough, Ruthann I., Petrij, Fred, Dauwerse, Johannes G., Milatovich-Cherry, Athena, Weiss, Lester, Saal, Howard M., Rubinstein, Jack H.

“…Most reported microdeletions of the CREB‐binding protein (CBP) gene in the Rubinstein‐Taybi syndrome (RTS) were detected by fluorescence in situ hybridization…”
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Mental retardation, absence of patellae, and other malformations with chromosomal mosaicism. A follow-up report by Nakagome, Y, Warkany, J, Rubinstein, J H

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CHROMOSOME ANALYSES IN A CHILDREN'S HOSPITAL by Warkany, Josef, Weinstein, E. David, Soukup, Shirley W., Rubinstein, Jack H., Curless, Mary C.

“…Chromosome analyses were performed in 227 persons, most of them pediatric patients. The majority of these were selected because of mongolism, other forms of…”
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CHROMOSOME ANALYSES IN A CHILDREN'S HOSPITAL by Warkany, Josef, Weinstein, E. David, Soukup, Shirley W., Rubinstein, Jack H., Curless, Mary C.

“…SINCE 1956 the chromosome number of man has been 2 and it has become possible to classify human chromosomes according to size and position of the centromere…”
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Adolescents with developmental disabilities; a survey of their problems and their management by Sevine, M S, Rauh, J L, Levine, C W, Rbinstien, J H

“…Adolescents with developmental disabilities deserve the same sophisticated multidisciplinary evaluation which is now available to younger children. Most of…”
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